Osteoblastoma of the thumb with a novel PRSS44::ALK fusion and literature review of osteoblastoma of hands and feet bones

Genes Chromosomes Cancer. 2024 May;63(5):e23241. doi: 10.1002/gcc.23241.

Abstract

Osteoblastomas (OBs) are benign neoplasms constituting approximately 1% of primary bone tumors with a predilection for the spine and sacrum. We describe an OB of the proximal phalanx of the left thumb in a 38-year-old female. MRI of left hand demonstrated a 29-mm mildly expansile enhancing lesion involving the entire proximal phalanx of the first digit. Histology displayed a bone-forming tumor consisting of trabeculae of remodeled woven bone framed by plump osteoblasts in a vascularized background. Next-generation sequencing analysis identified a PRSS44::ALK fusion gene.

Keywords: PRSS44::ALK; fusion; osteoblastoma.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Bone Neoplasms* / genetics
  • Bone Neoplasms* / pathology
  • Female
  • Humans
  • Oncogene Proteins, Fusion / genetics
  • Osteoblastoma* / genetics
  • Osteoblastoma* / pathology
  • Thumb* / abnormalities
  • Thumb* / pathology

Substances

  • Oncogene Proteins, Fusion